Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values LOC649330 649330 broad.mit.edu 37 1 12907709 12907709 + Missense_Mutation SNP C T T rs4026148 TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr1:12907709C>T uc009vno.2 - 1 529 c.434G>A c.(433-435)CGC>CAC p.R145H HNRNPCL1_uc010obf.1_Missense_Mutation_p.R145H NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 145 nucleic acid binding|nucleotide binding 0 TAGACGTTGACGTTTCGAGGG 0.483 LOC649330 649330 broad.mit.edu 37 1 12907886 12907886 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr1:12907886G>A uc009vno.2 - 1 352 c.257C>T c.(256-258)GCA>GTA p.A86V HNRNPCL1_uc010obf.1_Missense_Mutation_p.A86V NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 86 nucleic acid binding|nucleotide binding 0 TTTTGGCTCTGCAGCCAGGTT 0.488 HSPG2 3339 broad.mit.edu 37 1 22216489 22216489 + Nonsense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr1:22216489G>A uc001bfj.2 - 6 599 c.559C>T c.(559-561)CGA>TGA p.R187* HSPG2_uc009vqd.2_Nonsense_Mutation_p.R187*|HSPG2_uc009vqe.1_Silent_p.S85S NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 187 SEA. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCCAGGCGTCGGAACTGGAAT 0.488 SLC2A1 6513 broad.mit.edu 37 1 43396355 43396355 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr1:43396355C>T uc001cik.2 - 4 983 c.458G>A c.(457-459)CGT>CAT p.R153H NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 153 Cytoplasmic (Potential). R -> H (in GLUT1DS2).|R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) CAGGGCCCCACGAAGGGCTGT 0.647 CDKN2C 1031 broad.mit.edu 37 1 51439609 51439610 + Frame_Shift_Ins INS - A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr1:51439609_51439610insA uc001csf.2 + 3 1390_1391 c.174_175insA c.(172-177)CTTAGAfs p.L58fs CDKN2C_uc001csg.2_Frame_Shift_Ins_p.L58fs NM_001262 NP_001253 P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C 58_59 ANK 2. cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(4)|p.?(1) central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1) 17 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) GACTGCTACTTAGAGGTGCTAA 0.441 D glioma|MM Multiple_Endocrine_Neoplasia_type_1 GBAP1 2630 broad.mit.edu 37 1 155184421 155184421 + Silent SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr1:155184421G>A uc001fjd.2 - 10 1173 c.1029C>T c.(1027-1029)AAC>AAT p.N343N RAG1AP1_uc010pey.1_Intron|GBAP1_uc001fjf.3_Silent_p.N304N|GBAP1_uc001fje.3_Silent_p.N265N SubName: Full=cDNA FLJ56170, highly similar to Glucosylceramidase (EC 3.2.1.45); 0 CGTCCGGGTCGTTCTTCTGAC 0.582 GPR52 9293 broad.mit.edu 37 1 174417940 174417940 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr1:174417940C>T uc001gka.1 + 1 729 c.691C>T c.(691-693)CGT>TGT p.R231C RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA NM_005684 NP_005675 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 231 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity skin(1) 1 CAAAATTTGCCGTCAGCACAC 0.463 KIF21B 23046 broad.mit.edu 37 1 200974537 200974537 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr1:200974537G>A uc001gvs.1 - 5 948 c.631C>T c.(631-633)CGC>TGC p.R211C KIF21B_uc001gvr.1_Missense_Mutation_p.R211C|KIF21B_uc009wzl.1_Missense_Mutation_p.R211C|KIF21B_uc010ppn.1_Missense_Mutation_p.R211C|KIF21B_uc001gvt.1_5'UTR NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 211 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GCTGTGGTGCGGGACAGGGCC 0.627 OR2T4 127074 broad.mit.edu 37 1 248525343 248525343 + Missense_Mutation SNP G A A rs141022739 TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr1:248525343G>A uc001ieh.1 + 1 461 c.461G>A c.(460-462)CGC>CAC p.R154H NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 154 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCTATGACCGCTACGTGGCC 0.522 CRTAC1 55118 broad.mit.edu 37 10 99683092 99683092 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr10:99683092C>T uc001kou.1 - 4 843 c.487G>A c.(487-489)GAT>AAT p.D163N CRTAC1_uc001kov.2_Missense_Mutation_p.D152N|CRTAC1_uc001kot.1_5'UTR NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 163 proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TTGACCTCATCGCTCAGGATG 0.612 DEAF1 10522 broad.mit.edu 37 11 688025 688025 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr11:688025C>T uc001lqq.1 - 4 1243 c.550G>A c.(550-552)GGC>AGC p.G184S DEAF1_uc009ycf.1_RNA NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 184 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) TTTTCTTGGCCGGGAGCCAGA 0.547 OR51E1 143503 broad.mit.edu 37 11 4674216 4674216 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr11:4674216C>T uc001lzi.3 + 2 604 c.460C>T c.(460-462)CGG>TGG p.R154W NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|pancreas(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTGTGGTGCGGGGGGCTGC 0.557 OR2AG1 144125 broad.mit.edu 37 11 6807033 6807033 + Silent SNP C G G TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr11:6807033C>G uc001mer.1 + 1 765 c.765C>G c.(763-765)GCC>GCG p.A255A NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGGAGCTGCCACATTCATGT 0.488 OR4C12 283093 broad.mit.edu 37 11 50004010 50004010 + Missense_Mutation SNP A G G TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr11:50004010A>G uc010ria.1 - 1 28 c.28T>C c.(28-30)TTC>CTC p.F10L NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 ATTAAAATGAATTCAGTCACA 0.338 FIBP 9158 broad.mit.edu 37 11 65655866 65655866 + Silent SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr11:65655866G>A uc001ogd.2 - 1 145 c.24C>T c.(22-24)TTC>TTT p.F8F FIBP_uc009yqu.2_Silent_p.F8F|FIBP_uc001oge.2_Silent_p.F8F|FIBP_uc010roq.1_Silent_p.F8F|FIBP_uc010ror.1_Silent_p.F8F|CCDC85B_uc001ogf.2_5'Flank NM_198897 NP_942600 O43427 FIBP_HUMAN FGF intracellular binding protein isoform a 8 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding ovary(1) 1 READ - Rectum adenocarcinoma(159;0.166) TGTTCCCCACGAAGATGTCCA 0.682 OREG0021090 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MMP1 4312 broad.mit.edu 37 11 102663439 102663439 + Silent SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr11:102663439C>T uc001phi.2 - 7 1073 c.930G>A c.(928-930)CCG>CCA p.P310P uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.P244P NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 310 Hemopexin-like 1. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GCTCAACTTCCGGGTAGAAGG 0.423 OR8D4 338662 broad.mit.edu 37 11 123777647 123777647 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr11:123777647G>A uc010saa.1 + 1 509 c.509G>A c.(508-510)GGA>GAA p.G170E NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TCTTTCTGTGGATCAAACATC 0.418 KCNMB4 27345 broad.mit.edu 37 12 70793987 70793987 + Splice_Site DEL A - - TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr12:70793987delA uc001svx.2 + 2 790 c.337_splice c.e2-2 p.C113_splice NM_014505 NP_055320 Q86W47 KCMB4_HUMAN calcium-activated potassium channel beta 4 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding 0 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) CTATTTTGTTAGTGCTCCTAT 0.333 ANKS1B 56899 broad.mit.edu 37 12 100166859 100166859 + Silent SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr12:100166859G>A uc001tge.1 - 8 1386 c.969C>T c.(967-969)ACC>ACT p.T323T ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Silent_p.T289T NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 323 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CTCCAGTGACGGTTTCACCTA 0.323 KDM2B 84678 broad.mit.edu 37 12 121880300 121880300 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr12:121880300C>T uc001uat.2 - 19 3048 c.2944G>A c.(2944-2946)GAG>AAG p.E982K KDM2B_uc001uaq.2_Missense_Mutation_p.E422K|KDM2B_uc010szy.1_Missense_Mutation_p.E422K|KDM2B_uc001uar.2_Missense_Mutation_p.E573K|KDM2B_uc001uas.2_Missense_Mutation_p.E913K|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.E230K|KDM2B_uc010szx.1_Missense_Mutation_p.E230K|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 982 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 TTGGGCTCCTCGCCCTCGCTC 0.632 PAN3 255967 broad.mit.edu 37 13 28841518 28841518 + Missense_Mutation SNP A C C TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr13:28841518A>C uc001urz.2 + 11 1342 c.1334A>C c.(1333-1335)TAC>TCC p.Y445S PAN3_uc010tdo.1_Missense_Mutation_p.Y591S|PAN3_uc001ury.2_Missense_Mutation_p.Y279S|PAN3_uc001urx.2_Missense_Mutation_p.Y391S NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 591 Protein kinase.|Interaction with PAN2. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GCTGATGCCTACTTCACCAAG 0.363 RXFP2 122042 broad.mit.edu 37 13 32360537 32360537 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr13:32360537C>T uc001utt.2 + 12 1018 c.947C>T c.(946-948)ACG>ATG p.T316M RXFP2_uc010aba.2_Missense_Mutation_p.T275M NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 316 Extracellular (Potential).|LRR 8. integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TCTAGCAATACGATAACGGAA 0.358 SLCO3A1 28232 broad.mit.edu 37 15 92663774 92663774 + Silent SNP A C C TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr15:92663774A>C uc002bqx.2 + 5 1290 c.1089A>C c.(1087-1089)GCA>GCC p.A363A SLCO3A1_uc002bqy.2_Silent_p.A363A|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.A305A NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, 363 Helical; Name=7; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity skin(1) 1 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TGGAGATTGCAGTGGTGGCTG 0.567 LASS3 204219 broad.mit.edu 37 15 101013181 101013181 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr15:101013181C>T uc002bvz.2 - 10 1188 c.686G>A c.(685-687)CGC>CAC p.R229H LASS3_uc002bwa.2_Missense_Mutation_p.R240H|LASS3_uc002bwb.2_Missense_Mutation_p.R229H NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 229 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) GGTCCCACTGCGAATATAATT 0.433 PDIA2 64714 broad.mit.edu 37 16 334899 334899 + Missense_Mutation SNP G A A rs141542731 by1000genomes TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr16:334899G>A uc002cgn.1 + 9 1670 c.562G>A c.(562-564)GCC>ACC p.A188T PDIA2_uc010bqt.1_Missense_Mutation_p.A33T|PDIA2_uc002cgo.1_Missense_Mutation_p.A188T NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 188 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CGAGGACGTGGCCACCTTCTT 0.672 MYH13 8735 broad.mit.edu 37 17 10212612 10212612 + Missense_Mutation SNP C T T rs142532419 by1000genomes TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr17:10212612C>T uc002gmk.1 - 35 5198 c.5108G>A c.(5107-5109)CGC>CAC p.R1703H NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1703 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGACAGCCTGCGGGTCCGCTC 0.667 STAT5A 6776 broad.mit.edu 37 17 40458321 40458321 + Silent SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr17:40458321C>T uc002hzj.1 + 14 2178 c.1536C>T c.(1534-1536)AAC>AAT p.N512N STAT5A_uc010cya.1_Silent_p.N512N|STAT5A_uc010cyb.1_Silent_p.N481N|STAT5A_uc010cyc.1_Silent_p.N482N|STAT5A_uc010cyd.1_5'UTR|STAT5A_uc010cye.1_5'UTR NM_003152 NP_003143 P42229 STA5A_HUMAN signal transducer and activator of transcription 512 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) AGGCGCTCAACATGAAATTCA 0.572 MPP3 4356 broad.mit.edu 37 17 41888484 41888484 + Missense_Mutation SNP T G G TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr17:41888484T>G uc002iei.3 - 17 1511 c.1345A>C c.(1345-1347)AAC>CAC p.N449H MPP3_uc002ieh.2_Missense_Mutation_p.N474H|MPP3_uc002iej.2_RNA NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 449 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) ACGTACTTGTTGTGATGTAAG 0.483 ASXL3 80816 broad.mit.edu 37 18 31320334 31320334 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr18:31320334G>A uc010dmg.1 + 11 3021 c.2966G>A c.(2965-2967)CGG>CAG p.R989Q ASXL3_uc002kxq.2_Missense_Mutation_p.R696Q NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 989 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CAGTCAACCCGGAACATATCA 0.433 ZNF516 9658 broad.mit.edu 37 18 74154420 74154420 + Missense_Mutation SNP G T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr18:74154420G>T uc010dqx.1 - 2 826 c.591C>A c.(589-591)CAC>CAA p.H197Q ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 197 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) TGAACGGCTTGTGCGCCTGGT 0.667 CCDC105 126402 broad.mit.edu 37 19 15132195 15132195 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr19:15132195G>A uc002nae.2 + 4 1004 c.905G>A c.(904-906)CGG>CAG p.R302Q NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 302 Potential. microtubule cytoskeleton organization microtubule ovary(1) 1 GAAGCCAAGCGGTTGTTGGTC 0.597 TMEM161A 54929 broad.mit.edu 37 19 19232455 19232455 + Missense_Mutation SNP T C C TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr19:19232455T>C uc002nlg.2 - 8 709 c.679A>G c.(679-681)ATC>GTC p.I227V TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.I202V|TMEM161A_uc002nli.2_Missense_Mutation_p.I124V|TMEM161A_uc002nlj.2_Missense_Mutation_p.I102V NM_017814 NP_060284 Q9NX61 T161A_HUMAN transmembrane protein 161A precursor 227 Helical; (Potential). cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2) 2 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) CCCACGCGGATAGCCAGCTTG 0.677 NUP62 23636 broad.mit.edu 37 19 50411934 50411934 + Silent SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr19:50411934G>A uc002pqx.2 - 2 1235 c.1131C>T c.(1129-1131)CGC>CGT p.R377R IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.R377R|NUP62_uc002pqz.2_Silent_p.R377R|NUP62_uc002pra.2_Silent_p.R377R|NUP62_uc002prb.2_Silent_p.R377R|NUP62_uc002prc.2_Silent_p.R301R NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 377 Potential. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TCTCCACCTCGCGGTGCAGGC 0.612 CAD 790 broad.mit.edu 37 2 27446562 27446562 + Missense_Mutation SNP A G G TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr2:27446562A>G uc002rji.2 + 7 1103 c.941A>G c.(940-942)AAC>AGC p.N314S CAD_uc010eyw.2_Missense_Mutation_p.N314S NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 314 Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTCTTCACCAACGCCAATGAT 0.537 RHOQ 23433 broad.mit.edu 37 2 46803312 46803312 + Missense_Mutation SNP T A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr2:46803312T>A uc002rva.2 + 3 607 c.288T>A c.(286-288)TTT>TTA p.F96L uc002rvb.2_Intron NM_012249 NP_036381 P17081 RHOQ_HUMAN ras-like protein TC10 precursor 96 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CAGCCTCATTTCAAAATGTGA 0.418 LRP2 4036 broad.mit.edu 37 2 170060768 170060768 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr2:170060768G>A uc002ues.2 - 42 7942 c.7729C>T c.(7729-7731)CGC>TGC p.R2577C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2577 LDL-receptor class B 28.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGAGTGCTGCGTTCAATCCTC 0.433 ISM1 140862 broad.mit.edu 37 20 13279712 13279712 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr20:13279712C>T uc010gce.1 + 6 1007 c.1001C>T c.(1000-1002)ACG>ATG p.T334M TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 334 AMOP. extracellular region 0 GCCTACAGCACGGCCGACATC 0.582 SCN10A 6336 broad.mit.edu 37 3 38739171 38739171 + Missense_Mutation SNP C T T rs148537653 TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr3:38739171C>T uc003ciq.2 - 27 5540 c.5540G>A c.(5539-5541)CGA>CAA p.R1847Q NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1847 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTGCTTCCATCGGAGAGTGGT 0.473 CCBP2 1238 broad.mit.edu 37 3 42906816 42906816 + Silent SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr3:42906816G>A uc003cme.2 + 3 1001 c.822G>A c.(820-822)ACG>ACA p.T274T CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Silent_p.T274T|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron NM_001296 NP_001287 O00590 CCBP2_HUMAN chemokine binding protein 2 274 Extracellular (Potential). chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity lung(4)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.241) TTCTGCATACGCTGTTGGACC 0.537 PLXNB1 5364 broad.mit.edu 37 3 48463528 48463528 + Silent SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr3:48463528G>A uc003csw.2 - 6 1776 c.1506C>T c.(1504-1506)TGC>TGT p.C502C PLXNB1_uc003csu.2_Silent_p.C502C|PLXNB1_uc003csx.2_Silent_p.C502C|PLXNB1_uc010hjx.1_RNA NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 502 Extracellular (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CAAGGAGCACGCACCACCCAC 0.557 SOX14 8403 broad.mit.edu 37 3 137484152 137484152 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr3:137484152G>A uc003erm.1 + 1 574 c.526G>A c.(526-528)GCC>ACC p.A176T NM_004189 NP_004180 O95416 SOX14_HUMAN SRY-box 14 176 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding 0 CCAGAACGGCGCCTTCGGCAG 0.667 ATR 545 broad.mit.edu 37 3 142183989 142183989 + Missense_Mutation SNP C A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr3:142183989C>A uc003eux.3 - 41 7113 c.6991G>T c.(6991-6993)GAC>TAC p.D2331Y ATR_uc003euy.1_Missense_Mutation_p.D217Y NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2331 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TTTCTCAGGTCATCTTTTGGC 0.299 Other_conserved_DNA_damage_response_genes NSUN7 79730 broad.mit.edu 37 4 40800851 40800851 + Nonsense_Mutation SNP G T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr4:40800851G>T uc003gvj.3 + 10 1825 c.1330G>T c.(1330-1332)GAA>TAA p.E444* NSUN7_uc003gvi.3_Nonsense_Mutation_p.E444* NM_024677 NP_078953 NOL1/NOP2/Sun domain family, member 7 0 AGTTTTTCCAGAAGAAAATGA 0.343 NPY5R 4889 broad.mit.edu 37 4 164271493 164271493 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr4:164271493G>A uc003iqn.2 + 4 250 c.68G>A c.(67-69)CGG>CAG p.R23Q NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 23 Extracellular (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) GCTGCCACTCGGAATTCTGAT 0.378 ADAM29 11086 broad.mit.edu 37 4 175897289 175897289 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr4:175897289G>A uc003iuc.2 + 5 1283 c.613G>A c.(613-615)GTC>ATC p.V205I ADAM29_uc003iud.2_Missense_Mutation_p.V205I|ADAM29_uc010irr.2_Missense_Mutation_p.V205I|ADAM29_uc011cki.1_Missense_Mutation_p.V205I NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 205 Peptidase M12B.|Extracellular (Potential). V -> I (in a colorectal cancer sample; somatic mutation). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.V205I(1) skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AATTGTAGTCGTCATTGATAA 0.348 IL31RA 133396 broad.mit.edu 37 5 55206410 55206410 + Nonsense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr5:55206410C>T uc003jql.2 + 12 1617 c.1552C>T c.(1552-1554)CGA>TGA p.R518* IL31RA_uc003jqm.2_Nonsense_Mutation_p.R486*|IL31RA_uc003jqn.2_Nonsense_Mutation_p.R518*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R481*|IL31RA_uc003jqo.2_Nonsense_Mutation_p.R376* NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 486 Extracellular (Potential).|Fibronectin type-III 5. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) GTCCCTGAAACGAAAGACCTC 0.458 GABRB2 2561 broad.mit.edu 37 5 160721153 160721153 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr5:160721153G>A uc003lys.1 - 11 1692 c.1474C>T c.(1474-1476)CGC>TGC p.R492C GABRB2_uc011deh.1_Missense_Mutation_p.R293C|GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C|GABRB2_uc010jiu.1_Missense_Mutation_p.R391C NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 492 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AAGAATATGCGGGACCACCGA 0.468 GABRA6 2559 broad.mit.edu 37 5 161113291 161113291 + Missense_Mutation SNP G T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr5:161113291G>T uc003lyu.2 + 2 432 c.94G>T c.(94-96)GTC>TTC p.V32F NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 32 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCAGAAAACGTCAGTCGGAT 0.488 TCGA Ovarian(5;0.080) GABRP 2568 broad.mit.edu 37 5 170222299 170222299 + Missense_Mutation SNP C T T rs145233692 TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr5:170222299C>T uc003mau.2 + 5 526 c.328C>T c.(328-330)CGC>TGC p.R110C GABRP_uc011dev.1_Missense_Mutation_p.R110C NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 110 Extracellular (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTGGATGCCCGCCTCGTGGA 0.562 HRH2 3274 broad.mit.edu 37 5 175110333 175110333 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr5:175110333G>A uc003mdd.2 + 1 1870 c.97G>A c.(97-99)GTT>ATT p.V33I HRH2_uc003mdc.3_Missense_Mutation_p.V33I NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 33 Helical; Name=1; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CCTCATCACCGTTGCTGGCAA 0.572 C6orf15 29113 broad.mit.edu 37 6 31079167 31079167 + Missense_Mutation SNP C A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr6:31079167C>A uc003nsk.1 - 2 969 c.969G>T c.(967-969)CAG>CAT p.Q323H NM_014070 NP_054789 Q6UXA7 CF015_HUMAN STG protein precursor 323 0 TCTAGCCCCACTGCAACCTAG 0.562 KCNQ5 56479 broad.mit.edu 37 6 73787150 73787150 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr6:73787150G>A uc003pgk.2 + 4 1069 c.722G>A c.(721-723)CGC>CAC p.R241H KCNQ5_uc003pgj.3_Missense_Mutation_p.R241H|KCNQ5_uc011dyh.1_Missense_Mutation_p.R241H|KCNQ5_uc011dyi.1_Missense_Mutation_p.R241H|KCNQ5_uc010kat.2_Missense_Mutation_p.R241H|KCNQ5_uc011dyj.1_Missense_Mutation_p.R241H|KCNQ5_uc011dyk.1_5'UTR NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 241 Helical; Voltage-sensor; Name=Segment S4; (Potential). protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity p.R241H(1) ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CAGATCCTCCGCATGGTGCGC 0.443 PRDM13 59336 broad.mit.edu 37 6 100062050 100062050 + Silent SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr6:100062050G>A uc003pqg.1 + 4 1800 c.1539G>A c.(1537-1539)GGG>GGA p.G513G NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) CCGAGCTGGGGTCGCTGGCCA 0.662 BEND3 57673 broad.mit.edu 37 6 107391831 107391831 + Silent SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr6:107391831G>A uc003prs.2 - 5 1214 c.564C>T c.(562-564)AAC>AAT p.N188N NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 188 ovary(3) 3 TGTTGGGGTCGTTGTCAGTGC 0.577 SGK1 6446 broad.mit.edu 37 6 134492161 134492161 + Frame_Shift_Del DEL G - - TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr6:134492161delG uc003qen.3 - 10 1127 c.1038delC c.(1036-1038)TTCfs p.F346fs SGK1_uc003qeo.3_Frame_Shift_Del_p.F441fs|SGK1_uc011ect.1_Frame_Shift_Del_p.F336fs|SGK1_uc011ecu.1_Frame_Shift_Del_p.F302fs|SGK1_uc011ecv.1_Frame_Shift_Del_p.F360fs|SGK1_uc011ecw.1_Frame_Shift_Del_p.F374fs NM_005627 NP_005618 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform 346 Protein kinase. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) CATCACTCACGAAGTCATCCT 0.527 KIAA1244 57221 broad.mit.edu 37 6 138612912 138612912 + Silent SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr6:138612912C>T uc003qhu.2 + 19 3090 c.3090C>T c.(3088-3090)AGC>AGT p.S1030S NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1030 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ACCACTTCAGCGATGGTGCCT 0.647 DNAH11 8701 broad.mit.edu 37 7 21583201 21583201 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr7:21583201C>T uc003svc.2 + 1 369 c.338C>T c.(337-339)GCG>GTG p.A113V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 113 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GGGCGCCTTGCGGCTTCCCAG 0.617 Kartagener_syndrome STK31 56164 broad.mit.edu 37 7 23802525 23802525 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr7:23802525C>T uc003sws.3 + 11 1466 c.1399C>T c.(1399-1401)CGC>TGC p.R467C STK31_uc003swt.3_Missense_Mutation_p.R444C|STK31_uc011jze.1_Missense_Mutation_p.R467C|STK31_uc010kuq.2_Missense_Mutation_p.R444C NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 467 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TCTTAATAAACGCTTAAAAAC 0.289 TXNDC3 51314 broad.mit.edu 37 7 37923916 37923916 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr7:37923916C>T uc003tfn.2 + 13 1378 c.1006C>T c.(1006-1008)CGT>TGT p.R336C NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 336 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TGATGTTTTGCGTATTATTAA 0.303 Kartagener_syndrome HECW1 23072 broad.mit.edu 37 7 43360248 43360248 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr7:43360248G>A uc003tid.1 + 5 972 c.367G>A c.(367-369)GAA>AAA p.E123K HECW1_uc011kbi.1_Missense_Mutation_p.E123K|HECW1_uc003tie.1_Missense_Mutation_p.E155K NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 123 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GGTCTTGTCCGAAAACTTTCT 0.428 SRCRB4D 136853 broad.mit.edu 37 7 76019569 76019569 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr7:76019569C>T uc003ufb.2 - 11 1883 c.1535G>A c.(1534-1536)CGC>CAC p.R512H SRCRB4D_uc003ufa.2_Missense_Mutation_p.A14T NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 512 SRCR 4. extracellular region|membrane scavenger receptor activity pancreas(1) 1 GCCCAGCTGGCGGCACAGGAC 0.667 KIAA1324L 222223 broad.mit.edu 37 7 86521158 86521158 + Missense_Mutation SNP T A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr7:86521158T>A uc011kha.1 - 21 3097 c.2912A>T c.(2911-2913)GAG>GTG p.E971V KIAA1324L_uc003uif.1_Missense_Mutation_p.E731V|KIAA1324L_uc011kgz.1_Missense_Mutation_p.E857V|KIAA1324L_uc003uie.2_Missense_Mutation_p.E804V NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 971 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) GAGTTCACACTCTTTTGAGTT 0.323 MCM7 4176 broad.mit.edu 37 7 99693629 99693629 + Missense_Mutation SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr7:99693629G>A uc003usw.1 - 11 1873 c.1363C>T c.(1363-1365)CGC>TGC p.R455C MCM7_uc003usv.1_Missense_Mutation_p.R279C|MCM7_uc003usx.1_Missense_Mutation_p.R279C|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 455 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) ATGGCTGTGCGGTCGGCCTCA 0.612 CPA2 1358 broad.mit.edu 37 7 129909521 129909521 + Missense_Mutation SNP A G G TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr7:129909521A>G uc003vpq.2 + 3 185 c.166A>G c.(166-168)AAA>GAA p.K56E CPA2_uc011kpc.1_Missense_Mutation_p.K56E NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 56 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TGATTTTTGGAAATCACCCAC 0.493 NOS3 4846 broad.mit.edu 37 7 150699008 150699008 + Silent SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr7:150699008C>T uc003wif.2 + 13 1898 c.1602C>T c.(1600-1602)TAC>TAT p.Y534Y NOS3_uc011kuy.1_Silent_p.Y328Y|NOS3_uc011kuz.1_Silent_p.Y534Y|NOS3_uc011kva.1_Silent_p.Y534Y|NOS3_uc011kvb.1_Silent_p.Y534Y NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 534 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCCAGAGCTACGCACAGCAGC 0.637 GFRA2 2675 broad.mit.edu 37 8 21608207 21608207 + Silent SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr8:21608207G>A uc003wzu.1 - 4 1362 c.687C>T c.(685-687)TGC>TGT p.C229C GFRA2_uc003wzv.1_Silent_p.C124C|GFRA2_uc003wzw.1_Silent_p.C96C|DOK2_uc003wzx.1_Intron NM_001495 NP_001486 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 isoform a 229 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity 0 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) GGCGCTCAGCGCACGCCTGGT 0.657 FAM150A 389658 broad.mit.edu 37 8 53452429 53452429 + Missense_Mutation SNP C T T rs145116532 TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr8:53452429C>T uc003xrd.2 - 3 492 c.287G>A c.(286-288)CGA>CAA p.R96Q FAM150A_uc011ldt.1_Missense_Mutation_p.R96Q NM_207413 NP_997296 Q6UXT8 F150A_HUMAN hypothetical protein LOC389658 precursor 96 extracellular region 0 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) GTAATAGAGTCGGTGGAAATG 0.363 CSMD3 114788 broad.mit.edu 37 8 114326801 114326801 + Missense_Mutation SNP T A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr8:114326801T>A uc003ynu.2 - 2 559 c.400A>T c.(400-402)AGG>TGG p.R134W CSMD3_uc003ynt.2_Missense_Mutation_p.R94W|CSMD3_uc011lhx.1_Missense_Mutation_p.R134W|CSMD3_uc010mcx.1_Missense_Mutation_p.R134W|CSMD3_uc003ynx.3_Missense_Mutation_p.R134W NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 134 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CACACTAACCTTGTCCTAAAG 0.303 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) PTPN3 5774 broad.mit.edu 37 9 112185070 112185070 + Missense_Mutation SNP C T T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr9:112185070C>T uc004bed.2 - 13 1176 c.1064G>A c.(1063-1065)CGG>CAG p.R355Q PTPN3_uc004beb.2_Missense_Mutation_p.R224Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.R68Q|PTPN3_uc011lwf.1_Intron NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 355 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 TAAGGATCTCCGCATGGCTGG 0.453 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900697 112900697 + Missense_Mutation SNP G A A rs139808664 TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr9:112900697G>A uc004bei.2 + 9 3761 c.3569G>A c.(3568-3570)CGA>CAA p.R1190Q PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R768Q|AKAP2_uc011lwi.1_Missense_Mutation_p.R816Q|AKAP2_uc004bem.2_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R776Q|AKAP2_uc011lwj.1_Missense_Mutation_p.R727Q|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R727Q NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 727 Potential. enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 GAAGAGATCCGAGCAGCTCAG 0.552 KIAA0649 9858 broad.mit.edu 37 9 138377609 138377609 + Missense_Mutation SNP C A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chr9:138377609C>A uc004cfr.1 + 4 1802 c.1253C>A c.(1252-1254)ACC>AAC p.T418N NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 418 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) TTGCCCGAGACCCACAGGAAA 0.622 GRPR 2925 broad.mit.edu 37 X 16142187 16142187 + Silent SNP G A A TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3331813c-f538-4833-b5eb-a214b7d52334 334697ef-d664-4d24-9ddb-c4d7448fd00d g.chrX:16142187G>A uc004cxj.2 + 1 764 c.111G>A c.(109-111)CCG>CCA p.P37P NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 37 Extracellular (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) GGTCCCACCCGGGGATCCTCT 0.488 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)